rs74315379
×
Entrez Id:
7139
Gene Symbol:
TNNT2
TNNT2
Cardiomyopathy, Familial Hypertrophic, 2
A
0.700
CausalMutation
CLINVAR
Exome Sequencing Identifies Pathogenic and Modifier Mutations in a Child With Sporadic Dilated Cardiomyopathy.
26656454
2015
rs74315379
×
Entrez Id:
7139
Gene Symbol:
TNNT2
TNNT2
Cardiomyopathy, Familial Hypertrophic, 2
A
0.700
CausalMutation
CLINVAR
A novel arginine to tryptophan (R144W) mutation in troponin T (cTnT) gene in an indian multigenerational family with dilated cardiomyopathy (FDCM).
24992688
2014
rs74315379
×
Entrez Id:
7139
Gene Symbol:
TNNT2
TNNT2
Cardiomyopathy, Familial Hypertrophic, 2
A
0.700
CausalMutation
CLINVAR
Familial dilated cardiomyopathy mutations uncouple troponin I phosphorylation from changes in myofibrillar Ca²⁺ sensitivity.
23539503
2013
rs74315379
×
Entrez Id:
7139
Gene Symbol:
TNNT2
TNNT2
Cardiomyopathy, Familial Hypertrophic, 2
A
0.700
CausalMutation
CLINVAR
Effects of troponin T cardiomyopathy mutations on the calcium sensitivity of the regulated thin filament and the actomyosin cross-bridge kinetics of human β-cardiac myosin.
24367593
2013
rs74315379
×
Entrez Id:
7139
Gene Symbol:
TNNT2
TNNT2
Cardiomyopathy, Familial Hypertrophic, 2
A
0.700
CausalMutation
CLINVAR
Clinical and mutational spectrum in a cohort of 105 unrelated patients with dilated cardiomyopathy.
21846512
2012
rs74315379
×
Entrez Id:
7139
Gene Symbol:
TNNT2
TNNT2
Cardiomyopathy, Familial Hypertrophic, 2
A
0.700
CausalMutation
CLINVAR
Differential interactions of thin filament proteins in two cardiac troponin T mouse models of hypertrophic and dilated cardiomyopathies.
18349139
2008
rs74315379
×
Entrez Id:
7139
Gene Symbol:
TNNT2
TNNT2
Cardiomyopathy, Familial Hypertrophic, 2
A
0.700
CausalMutation
CLINVAR
The changes of the cardiac structure and function in cTnTR141W transgenic mice.
18606313
2008
rs74315379
×
Entrez Id:
7139
Gene Symbol:
TNNT2
TNNT2
Cardiomyopathy, Familial Hypertrophic, 2
A
0.700
CausalMutation
CLINVAR
Mutation screening in dilated cardiomyopathy: prominent role of the beta myosin heavy chain gene.
15769782
2005
rs74315379
×
Entrez Id:
7139
Gene Symbol:
TNNT2
TNNT2
Cardiomyopathy, Familial Hypertrophic, 2
A
0.700
CausalMutation
CLINVAR
Cardiac troponin T mutation R141W found in dilated cardiomyopathy stabilizes the troponin T-tropomyosin interaction and causes a Ca2+ desensitization.
14654368
2003
rs74315379
×
Entrez Id:
7139
Gene Symbol:
TNNT2
TNNT2
Cardiomyopathy, Familial Hypertrophic, 2
A
0.700
CausalMutation
CLINVAR
Novel cardiac troponin T mutation as a cause of familial dilated cardiomyopathy.
11684629
2001